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1دورية أكاديمية
المؤلفون: Emiliano Giardina, Paola Mandich, Roberta Ghidoni, Nicola Ticozzi, Giacomina Rossi, Chiara Fenoglio, Francesco Danilo Tiziano, Federica Esposito, Sabina Capellari, Benedetta Nacmias, Rossana Mineri, Rosa Campopiano, Luana Di Pilla, Federica Sammarone, Stefania Zampatti, Cristina Peconi, Flavio De Angelis, Ilaria Palmieri, Caterina Galandra, Eleonora Nicodemo, Paola Origone, Fabio Gotta, Clarissa Ponti, Roland Nicsanu, Luisa Benussi, Silvia Peverelli, Antonia Ratti, Martina Ricci, Giuseppe Di Fede, Stefania Magri, Maria Serpente, Serena Lattante, Teuta Domi, Paola Carrera, Elisa Saltimbanco, Silvia Bagnoli, Assunta Ingannato, Alberto Albanese, Fabrizio Tagliavini, Raffaele Lodi, Carlo Caltagirone, Stefano Gambardella, Enza Maria Valente, Vincenzo Silani
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: C9orf72, GGGGCC hexanucleotide repeat, amyotrophic lateral sclerosis, frontotemporal dementia, allele distribution, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1284459/fullTest; https://doaj.org/toc/1664-2295Test
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2دورية أكاديمية
المؤلفون: Mauricio Adaro, Ángel Gabriel Salinas Ibáñez, Anabella Lucia Origone, Diego Vallés, Fanny Guzmán, Alba Vega, Sonia Barberis
المصدر: Frontiers in Microbiology, Vol 14 (2023)
مصطلحات موضوعية: antibacterial peptide, enzymatic synthesis of peptides, Ile-Gln (IQ), novel peptide against sensitive and SDR Gram positive and Gram negative strains, food preservation, Microbiology, QR1-502
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fmicb.2023.1153135/fullTest; https://doaj.org/toc/1664-302XTest
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3دورية أكاديمية
المؤلفون: Federica Ruscitti, Paola Origone, Giulia Rosti, Lucia Trevisan, Roberta Marchese, Andrea Brugnolo, Federico Massa, Paola Castellini, Paola Mandich
المصدر: Clinical Case Reports, Vol 10, Iss 10, Pp n/a-n/a (2022)
مصطلحات موضوعية: brazilian ancestry, chorea, huntington disease‐like 2, JPH3, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-0904Test
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4دورية أكاديمية
المؤلفون: Ángel Gabriel Salinas Ibáñez, Anabella L. Origone, Constanza S. Liggieri, Sonia E. Barberis, Alba E. Vega
المصدر: Frontiers in Microbiology, Vol 13 (2022)
مصطلحات موضوعية: asclepain cI, Asclepia curassavica L. (Asclepiadaceae), safe nutraceutical product, antimicrobial proteolytic enzyme, helicobacter pylori, natural therapeutic adjuvant, Microbiology, QR1-502
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fmicb.2022.961958/fullTest; https://doaj.org/toc/1664-302XTest
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5دورية أكاديمية
المؤلفون: Gemelli C., Traverso M., Trevisan L., Fabbri S., Scarsi E., Carlini B., Prada V., Mongini T., Ruggiero L., Patrone S., Gallone S., Iodice R., Pisciotta L., Zara F., Origone P., Rota E., Minetti C., Bruno C., Schenone A., Mandich P., Fiorillo C., Grandis M.
المساهمون: Gemelli, C., Traverso, M., Trevisan, L., Fabbri, S., Scarsi, E., Carlini, B., Prada, V., Mongini, T., Ruggiero, L., Patrone, S., Gallone, S., Iodice, R., Pisciotta, L., Zara, F., Origone, P., Rota, E., Minetti, C., Bruno, C., Schenone, A., Mandich, P., Fiorillo, C., Grandis, M., Pisciotta, Livia
مصطلحات موضوعية: creatine kinase, diagnostic workflow, hyperCKemia, muscle disease, next-generation sequencing
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34687219; info:eu-repo/semantics/altIdentifier/wos/WOS:000715294800001; volume:65; firstpage:96; lastpage:104; numberofpages:9; journal:MUSCLE & NERVE; http://hdl.handle.net/11567/1065190Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118849701
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6دورية أكاديمية
المؤلفون: Gemelli C., Geroldi A., Massucco S., Trevisan L., Callegari I., Marinelli L., Ursino G., Hamedani M., Mennella G., Stara S., Maggi G., Mori L., Schenone C., Gotta F., Patrone S., Mammi A., Origone P., Prada V., Nobbio L., Mandich P., Schenone A., Bellone E., Grandis M.
المساهمون: Gemelli, C., Geroldi, A., Massucco, S., Trevisan, L., Callegari, I., Marinelli, L., Ursino, G., Hamedani, M., Mennella, G., Stara, S., Maggi, G., Mori, L., Schenone, C., Gotta, F., Patrone, S., Mammi, A., Origone, P., Prada, V., Nobbio, L., Mandich, P., Schenone, A., Bellone, E., Grandis, M.
مصطلحات موضوعية: Charcot–Marie–Tooth (CMT) disease, Genetic, Neuropathy, Phenotype
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35330153; info:eu-repo/semantics/altIdentifier/wos/WOS:000774995700001; volume:12; firstpage:402; lastpage:N/A; journal:LIFE; http://hdl.handle.net/11567/1081481Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85126538918
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7دورية أكاديمية
المؤلفون: Federica Ruscitti, Lucia Trevisan, Giulia Rosti, Fabio Gotta, Annalia Cianflone, Alessandro Geroldi, Paola Origone, Anna Pichiecchio, Simona Viglio, Maria Iascone, Paola Mandich
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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8دورية أكاديمية
المؤلفون: Chiara Gemelli, Alessandro Geroldi, Sara Massucco, Lucia Trevisan, Ilaria Callegari, Lucio Marinelli, Giulia Ursino, Mehrnaz Hamedani, Giulia Mennella, Silvia Stara, Giovanni Maggi, Laura Mori, Cristina Schenone, Fabio Gotta, Serena Patrone, Alessia Mammi, Paola Origone, Valeria Prada, Lucilla Nobbio, Paola Mandich, Angelo Schenone, Emilia Bellone, Marina Grandis
المصدر: Life, Vol 12, Iss 3, p 402 (2022)
مصطلحات موضوعية: Charcot–Marie–Tooth (CMT) disease, neuropathy, genetic, phenotype, Science
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Johnson J. O., Chia R., Miller D. E., Li R., Kumaran R., Abramzon Y., Alahmady N., Renton A. E., Topp S. D., Gibbs J. R., Cookson M. R., Sabir M. S., Dalgard C. L., Troakes C., Jones A. R., Shatunov A., Iacoangeli A., Al Khleifat A., Ticozzi N., Silani V., Gellera C., Blair I. P., Dobson-Stone C., Kwok J. B., Bonkowski E. S., Palvadeau R., Tienari P. J., Morrison K. E., Shaw P. J., Al-Chalabi A., Brown R. H., Calvo A., Mora G., Al-Saif H., Gotkine M., Leigh F., Chang I. J., Perlman S. J., Glass I., Scott A. I., Shaw C. E., Basak A. N., Landers J. E., Chio A., Crawford T. O., Smith B. N., Traynor B. J., Fallini C., Gkazi A. S., Scotter E. L., Kenna K. P., Keagle P., Tiloca C., Vance C., Colombrita C., King A., Pensato V., Castellotti B., Baas F., Ten Asbroek A. L. M. A., McKenna-Yasek D., McLaughlin R. L., Polak M., Asress S., Esteban-Perez J., Stevic Z., D'Alfonso S., Mazzini L., Comi G. P., Del Bo R., Ceroni M., Gagliardi S., Querin G., Bertolin C., Van Rheenen W., Rademakers R., Van Blitterswijk M., Lauria G., Duga S., Corti S., Cereda C., Corrado L., Soraru G., Williams K. L., Nicholson G. A., Leblond-Manry C., Rouleau G. A., Hardiman O., Veldink J. H., Van Den Berg L. H., Pall H., Turner M. R., Talbot K., Taroni F., Garcia-Redondo A., Wu Z., Glass J. D., Ratti A., Adeleye A., Soltis A. R., Alba C., Viollet C., Bacikova D., Hupalo D. N., Sukumar G., Pollard H. B., Wilkerson M. D., Martinez E. M., Ahmed S., Arepalli S., Baloh R. H., Bowser R., Brady C. B., Brice A., Broach J., Campbell R. H., Camu W., Cooper-Knock J., Ding J., Drepper C., Drory V. E., Dunckley T. L., Eicher J. D., England B. K., Faghri F., Feldman E., Floeter M. K., Fratta P., Geiger J. T., Gerhard G., Gibson S. B., Hardy J., Harms M. B., Heiman-Patterson T. D., Hernandez D. G., Jansson L., Kirby J., Kowall N. W., Laaksovirta H., Landeck N., Landi F., Le Ber I., Lumbroso S., Macgowan D. J. L., Maragakis N. J., Mouzat K., Murphy N. A., Myllykangas L., Nalls M. A., Orrell R. W., Ostrow L. W., Pamphlett R., Pickering-Brown S., Pioro E. P., Pletnikova O., Pliner H. A., Pulst S. M., Ravits J. M., Rivera A., Robberecht W., Rogaeva E., Rollinson S., Rothstein J. D., Scholz S. W., Sendtner M., Sidle K. C., Simmons Z., Singleton A. B., Smith N., Stone D. J., Troncoso J. C., Valori M., Van Damme P., Van Deerlin V. M., Van Den Bosch L., Zinman L., Angelocola S. M., Ausiello F. P., Barberis M., Bartolomei I., Battistini S., Bersano E., Bisogni G., Borghero G., Brunetti M., Cabona C., Canale F., Canosa A., Cantisani T. A., Capasso M., Caponnetto C., Cardinali P., Carrera P., Casale F., Colletti T., Conforti F. L., Conte A., Conti E., Corbo M., Cuccu S., Dalla Bella E., D'Errico E., Demarco G., Dubbioso R., Ferrarese C., Ferraro P. M., Filippi M., Fini N., Floris G., Fuda G., Gallone S., Gianferrari G., Giannini F., Grassano M., Greco L., Iazzolino B., Introna A., La Bella V., Lattante S., Liguori R., Logroscino G., Logullo F. O., Lunetta C., Mandich P., Mandrioli J., Manera U., Manganelli F., Marangi G., Marinou K., Marrosu M. G., Martinelli I., Messina S., Moglia C., Mosca L., Murru M. R., Origone P., Passaniti C., Petrelli C., Petrucci A., Pozzi S., Pugliatti M., Quattrini A., Ricci C., Riolo G., Riva N., Russo M., Sabatelli M., Salamone P., Salivetto M., Salvi F., Santarelli M., Sbaiz L., Sideri R., Simone I., Simonini C., Spataro R., Tanel R., Tedeschi G., Ticca A., Torriello A., Tranquilli S., Tremolizzo L., Trojsi F., Vasta R., Vacchiano V., Vita G., Volanti P., Zollino M., Zucchi E.
المساهمون: Johnson, J. O., Chia, R., Miller, D. E., Li, R., Kumaran, R., Abramzon, Y., Alahmady, N., Renton, A. E., Topp, S. D., Gibbs, J. R., Cookson, M. R., Sabir, M. S., Dalgard, C. L., Troakes, C., Jones, A. R., Shatunov, A., Iacoangeli, A., Al Khleifat, A., Ticozzi, N., Silani, V., Gellera, C., Blair, I. P., Dobson-Stone, C., Kwok, J. B., Bonkowski, E. S., Palvadeau, R., Tienari, P. J., Morrison, K. E., Shaw, P. J., Al-Chalabi, A., Brown, R. H., Calvo, A., Mora, G., Al-Saif, H., Gotkine, M., Leigh, F., Chang, I. J., Perlman, S. J., Glass, I., Scott, A. I., Shaw, C. E., Basak, A. N., Landers, J. E., Chio, A., Crawford, T. O., Smith, B. N., Traynor, B. J., Fallini, C., Gkazi, A. S., Scotter, E. L., Kenna, K. P., Keagle, P., Tiloca, C., Vance, C., Colombrita, C., King, A., Pensato, V., Castellotti, B., Baas, F., Ten Asbroek, A. L. M. A., McKenna-Yasek, D., Mclaughlin, R. L., Polak, M., Asress, S., Esteban-Perez, J., Stevic, Z., D'Alfonso, S., Mazzini, L., Comi, G. P., Del Bo, R., Ceroni, M., Gagliardi, S., Querin, G., Bertolin, C., Van Rheenen, W., Rademakers, R., Van Blitterswijk, M., Lauria, G., Duga, S., Corti, S., Cereda, C., Corrado, L., Soraru, G., Williams, K. L., Nicholson, G. A., Leblond-Manry, C., Rouleau, G. A., Hardiman, O., Veldink, J. H., Van Den Berg, L. H., Pall, H., Turner, M. R.
مصطلحات موضوعية: Adolescent, Adult, Amyotrophic Lateral Sclerosi, Child, Preschool, Female, Genetic Predisposition to Disease, Human, Mutation, Serine C-Palmitoyltransferase, Whole Exome Sequencing, Young Adult
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34459874; info:eu-repo/semantics/altIdentifier/wos/WOS:000692566100005; volume:78; issue:10; firstpage:1236; lastpage:1248; numberofpages:13; journal:JAMA NEUROLOGY; http://hdl.handle.net/11365/1181203Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85114289450; https://jamanetwork.com/journals/jamaneurology/fullarticle/2783665Test; https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8406220Test/
الإتاحة: https://doi.org/10.1001/jamaneurol.2021.2598Test
http://hdl.handle.net/11365/1181203Test
https://jamanetwork.com/journals/jamaneurology/fullarticle/2783665Test
https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8406220Test/ -
10دورية أكاديمية
المؤلفون: Johnson, JO, Chia, R, Miller, DE, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, AE, Topp, SD, Gibbs, JR, Cookson, MR, Sabir, MS, Dalgard, CL, Troakes, C, Jones, AR, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, IP, Dobson-Stone, C, Kwok, JB, Bonkowski, ES, Palvadeau, R, Tienari, PJ, Morrison, KE, Shaw, PJ, Al-Chalabi, A, Brown, RH, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, IJ, Perlman, SJ, Glass, I, Scott, AI, Shaw, CE, Basak, AN, Landers, JE, Chiò, A, Crawford, TO, Smith, BN, Traynor, BJ, Fallini, C, Gkazi, AS, Scotter, EL, Kenna, KP, Keagle, P, Tiloca, C, Vance, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, ten Asbroek, ALMA, McKenna-Yasek, D, McLaughlin, RL, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D’Alfonso, S, Mazzini, L, Comi, GP, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, van Rheenen, W, Rademakers, R, van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, KL, Nicholson, GA, Leblond-Manry, C, Rouleau, GA, Hardiman, O, Veldink, JH, van den Berg, LH, Pall, H, Turner, MR, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, JD, Ratti, A, Adeleye, A, Soltis, AR, Alba, C, Viollet, C, Bacikova, D, Hupalo, DN, Sukumar, G, Pollard, HB, Wilkerson, MD, Martinez, EM, Ahmed, S, Arepalli, S, Baloh, RH, Bowser, R, Brady, CB, Brice, A, Broach, J, Campbell, RH, Camu, W, Cooper-Knock, J, Ding, J, Drepper, C, Drory, VE, Dunckley, TL, Eicher, JD, England, BK, Faghri, F, Feldman, E, Floeter, MK, Fratta, P, Geiger, JT, Gerhard, G, Gibson, SB, Hardy, J, Harms, MB, Heiman-Patterson, TD, Hernandez, DG, Jansson, L, Kirby, J, Kowall, NW, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, MacGowan, DJL, Maragakis, NJ, Mouzat, K, Murphy, NA, Myllykangas, L, Nalls, MA, Orrell, RW, Ostrow, LW, Pamphlett, R, Pickering-Brown, S, Pioro, EP, Pletnikova, O, Pliner, HA, Pulst, SM, Ravits, JM, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, JD, Scholz, SW, Sendtner, M, Sidle, KC, Simmons, Z, Singleton, AB, Smith, N, Stone, DJ, Troncoso, JC, Valori, M, Van Damme, P, Van Deerlin, VM, Van Den Bosch, L, Zinman, L, Angelocola, SM, Ausiello, FP, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Canale, F, Canosa, A, Cantisani, TA, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Colletti, T, Conforti, FL, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D’Errico, E, DeMarco, G, Dubbioso, R, Ferrarese, C, Ferraro, PM, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Liguori, R, Logroscino, G, Logullo, FO, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, MG, Martinelli, I, Messina, S, Moglia, C, Mosca, L, Murru, MR, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M, Zucchi, E
وصف الملف: text
العلاقة: https://eprints.whiterose.ac.uk/180985/1/jamaneurology_johnson_2021_oi_210047_1633018740.39649.pdfTest; Johnson, JO, Chia, R, Miller, DE et al. (295 more authors) (2021) Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis. JAMA Neurology, 78 (10). pp. 1236-1248. ISSN 2168-6149